Incidental Mutation 'R5192:Tollip'
| ID |
405090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tollip
|
| Ensembl Gene |
ENSMUSG00000025139 |
| Gene Name |
toll interacting protein |
| Synonyms |
Toll interacting protein, 4930403G24Rik, 4931428G15Rik |
| MMRRC Submission |
042768-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.083)
|
| Stock # |
R5192 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141435317-141456198 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 141445854 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 9
(R9H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118336
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001950]
[ENSMUST00000055819]
[ENSMUST00000130439]
[ENSMUST00000151890]
|
| AlphaFold |
Q9QZ06 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000001950
AA Change: R78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000001950
Gene: ENSMUSG00000025139
AA Change: R78H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
C2
|
54 |
151 |
1.32e-6 |
SMART |
|
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
213 |
225 |
N/A |
INTRINSIC |
|
CUE
|
229 |
271 |
1.43e-15 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055819
AA Change: R78H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000051485
Gene: ENSMUSG00000025139
AA Change: R78H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
C2
|
54 |
151 |
1.32e-6 |
SMART |
|
low complexity region
|
175 |
190 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130439
AA Change: R74H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117938
Gene: ENSMUSG00000025139
AA Change: R74H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
40 |
N/A |
INTRINSIC |
|
Pfam:C2
|
51 |
115 |
6e-9 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151890
AA Change: R9H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118336
Gene: ENSMUSG00000025139
AA Change: R9H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:C2
|
1 |
66 |
1.9e-8 |
PFAM |
|
low complexity region
|
106 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
156 |
N/A |
INTRINSIC |
|
CUE
|
160 |
202 |
1.43e-15 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211231
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitin-binding protein that interacts with several Toll-like receptor (TLR) signaling cascade components. The encoded protein regulates inflammatory signaling and is involved in interleukin-1 receptor trafficking and in the turnover of IL1R-associated kinase. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice display normal immune cell composition but reduced cytokine production when stimulated with low concentrations of some inducers. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Babam1 |
T |
C |
8: 71,856,897 (GRCm39) |
V286A |
probably damaging |
Het |
| Becn2 |
A |
G |
1: 175,748,408 (GRCm39) |
D158G |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,968,075 (GRCm39) |
I853T |
probably benign |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,925,185 (GRCm39) |
T3883A |
possibly damaging |
Het |
| Dzip1 |
C |
T |
14: 119,148,805 (GRCm39) |
M291I |
probably damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9988 |
T |
C |
8: 88,865,001 (GRCm39) |
|
probably benign |
Het |
| Gstm1 |
A |
G |
3: 107,922,259 (GRCm39) |
|
probably null |
Het |
| Hsfy2 |
T |
A |
1: 56,675,894 (GRCm39) |
K214N |
probably benign |
Het |
| Kat6a |
G |
A |
8: 23,401,729 (GRCm39) |
R366H |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrh1 |
T |
C |
6: 129,748,721 (GRCm39) |
T99A |
probably benign |
Het |
| Marchf10 |
T |
C |
11: 105,262,752 (GRCm39) |
H735R |
possibly damaging |
Het |
| Myo1g |
T |
C |
11: 6,464,816 (GRCm39) |
D486G |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,400,101 (GRCm39) |
Y259H |
possibly damaging |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,029,207 (GRCm39) |
Y536H |
probably benign |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Tmtc2 |
G |
A |
10: 105,026,038 (GRCm39) |
P810L |
probably damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,363 (GRCm39) |
S268T |
probably damaging |
Het |
| Vps51 |
A |
G |
19: 6,120,497 (GRCm39) |
V472A |
possibly damaging |
Het |
| Zfp608 |
C |
A |
18: 55,031,569 (GRCm39) |
K790N |
probably damaging |
Het |
| Zfp661 |
A |
G |
2: 127,418,982 (GRCm39) |
V386A |
possibly damaging |
Het |
|
| Other mutations in Tollip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R1404:Tollip
|
UTSW |
7 |
141,438,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1404:Tollip
|
UTSW |
7 |
141,438,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1742:Tollip
|
UTSW |
7 |
141,446,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2443:Tollip
|
UTSW |
7 |
141,444,560 (GRCm39) |
nonsense |
probably null |
|
|
R4092:Tollip
|
UTSW |
7 |
141,438,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5614:Tollip
|
UTSW |
7 |
141,445,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6132:Tollip
|
UTSW |
7 |
141,443,334 (GRCm39) |
missense |
probably benign |
0.37 |
|
R6805:Tollip
|
UTSW |
7 |
141,444,582 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6830:Tollip
|
UTSW |
7 |
141,452,451 (GRCm39) |
start codon destroyed |
probably null |
0.00 |
|
R7366:Tollip
|
UTSW |
7 |
141,443,334 (GRCm39) |
missense |
probably benign |
0.37 |
|
R7509:Tollip
|
UTSW |
7 |
141,445,878 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7759:Tollip
|
UTSW |
7 |
141,438,276 (GRCm39) |
missense |
probably benign |
|
|
R8024:Tollip
|
UTSW |
7 |
141,446,563 (GRCm39) |
missense |
probably benign |
|
|
R9574:Tollip
|
UTSW |
7 |
141,445,731 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACACCCATGTCTGTCAGATCCC -3'
(R):5'- GCAGCATGTTCAAGAGCAGG -3'
Sequencing Primer
(F):5'- TGTCTGTCAGATCCCAAACTAG -3'
(R):5'- CTGACACGATTAGGTGAACTTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation